Variant report

Variant	rs8176414
Chromosome Location	chr2:188369110-188369111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:188367651..188372772-chr2:188414874..188419301,6	K562	blood:
2	chr2:188366744..188369184-chr2:188446137..188447850,2	K562	blood:
3	chr2:188368955..188371760-chr2:188416561..188418698,2	K562	blood:
4	chr2:188367231..188371096-chr2:188401019..188405423,6	K562	blood:
5	chr2:188366746..188369254-chr2:188412378..188414717,2	K562	blood:

Variant related genes	Relation type
ENSG00000224063	Chromatin interaction
ENSG00000003436	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs8176442	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176450	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875557	chr2:188219052-188370232	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv584036	chr2:188256158-188369841	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv875562	chr2:188258904-188370232	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188334200-188374600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:188350600-188370000	Weak transcription	Small Intestine	intestine
3	chr2:188356400-188374400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:188358200-188370000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:188358400-188374600	Weak transcription	Fetal Thymus	thymus
6	chr2:188359200-188375600	Weak transcription	Lung	lung
7	chr2:188360600-188375600	Weak transcription	HSMMtube	muscle
8	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
9	chr2:188362200-188369400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:188365400-188370400	Enhancers	Hela-S3	cervix
11	chr2:188365400-188370600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:188365600-188376400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:188365800-188370200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:188366200-188369400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:188366200-188369800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:188366200-188375400	Weak transcription	Placenta	Placenta
17	chr2:188366400-188369200	Enhancers	A549	lung
18	chr2:188366600-188369800	Weak transcription	NHDF-Ad	bronchial
19	chr2:188367200-188374600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:188367200-188383800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:188367600-188369400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:188367600-188381600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:188368000-188369600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:188368200-188369400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:188368200-188370600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:188368200-188374400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:188368400-188369400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:188368400-188370200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:188368400-188383800	Weak transcription	Osteobl	bone
30	chr2:188368600-188369200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:188368600-188369800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:188368600-188370200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:188368600-188370400	Enhancers	Primary T cells from cord blood	blood
34	chr2:188368600-188370600	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:188368800-188370200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:188368800-188374600	Weak transcription	HSMM	muscle
37	chr2:188369000-188369200	Transcr. at gene 5' and 3'	HepG2	liver
38	chr2:188369000-188369200	Active TSS	NH-A	brain
39	chr2:188369000-188369400	Flanking Active TSS	K562	blood
40	chr2:188369000-188369600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:188369000-188369600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:188369000-188369600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:188369000-188369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:188369000-188369600	Enhancers	Fetal Lung	lung
45	chr2:188369000-188369600	Flanking Active TSS	HUVEC	blood vessel
46	chr2:188369000-188370400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:188369000-188370600	Enhancers	Dnd41	blood

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